Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

1. Procedures are given for the syntheses of alpha,omega-dinucleoside 5'-polyphosphates as inhibitors of adenylate kinases. The following order for the ability of inhibiting pig muscle adenylate kinase was observed: Ap5A greater than 1:N6-etheno-Ap5A greater than Ap6A greater than Gp5A greater than Ap4A greater than Up5A. The synthesis of adenosine tetraphosphate, the starting material for Ap5A, is also described. 2. One molecule of pig muscle adenylate kinase binds one molecule of Ap5A. The difference spectrum of Ap5A-adenylate kinase with its maximum of 5050 M-1 - cm-1 at 271 nm, as well as the fluorescence properties of 1:N6-etheno-Ap5A can be used for kinetic and binding studies. 3. The specific binding of the negatively charged Ap5A was exploited in the preparation of human muscle adenylate kinase. The enzyme was purified to homogeneity with an overall yield of 65%, the absolute value being 70 mg per kg of muscle. 4. The effect of Ap5A on adenylate kinase in extracts of various cells and cell organelles was tested. A ratio of 1:50 (mol/mol) for Ap5A to other nucleotides was used for suppressing the adenylate kinase activity in extracts of mammalian and insect skeletal muscel, of human erythrocytes and of Staphylococcus aureus. A ratio of 1:5 was found to be necessary for the adenylate kinase from tobacco leaves and spinach chloroplasts, and a ratio of 2:1 was needed for suppressing the adenylate kinase from bovine liver mitochondria, human kidney homogenate and from Escherichia coli. Ap5A appears not to be metabolized in any of the above extracts. These results indicate that Ap5A can be used for evaluating the contribution of adenylate kinase to the production of ATP fro ADP in energy-transducing systems. 5. Contaminating adenylate kinase can be inhibited by a concentration of Ap5A which does not interfere in the study of many (phospho)kinases and ATPases. The applications of Ap5A in the assay for nucleoside diphosphokinase and in the study of mechanical and biochemical properties of contractile proteins are representative examples. The use of Ap5A makes it possible to study the effect of ADP per se in such systems. 6. Sepharose-bound Ap5A was used for removing traces of adenylate kinase from samples of myosin and creatine kinase. 7. In the presence of Ap5A the activity of creatine kinase was measured in hemolytic serum of venous blood, in plasma of capillary blood and in samples of whole blood after complete hemolysis had been induced. The clinical significance of these findings are shown for cases of myocardial infarction and muscular dystrophy.
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PMID:Synthetic inhibitors of adenylate kinases in the assays for ATPases and phosphokinases. 17 Jan 10

In skeletal muscle isoenzymes of CK were determined by immunprecipitation and chromatography. The activity of CK-MB was between 17 and 47 U/g muscle, corresponding to a quota between 2,1 and 4,2% of the total activity. In sera of patients with muscular dystrophy, polymyositis, hypothyroidism, after arterial embolism, epilepsy, hyperventilation, operations and polytrauma with and without injury to the thorax isoenzymes were measure by immune precipitation- and immune inhibition-test. The percentage of CK-MB in all sera was less than 6% of the total CK-activity (range: 0 to 6%). Only patients in the first day after neurosurgical operations showed a quota till to 6.5% CK-MB. In serum of patients after polytrauma without injury to the thorax the percentage of CK-MB ranged from 0-5.7% while after polytrauma with injury to the thorax and a reasonable suspicion of a damage to the myocardium this quota was between 5.1 and 23.6% of the total activity. CK-BB activity was not detectable in any cases. Therefore a disease or damage of the skeletal muscle is more probable, if the percentage of CK-MB in less than 6%, because in sera of patients with myocardial infarction in the first 48 h after beginning of the symptoms this quota of CK-MB in the most cases in more than 6%.
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PMID:[Isoenzymes of creatine kinase: distribution in the skeletal muscle and in sera of patients with muscular diseases or damages (author's transl)]. 66 Nov 51

A sensitive and specific radioimmunoassay has been developed for the measurement of serum Mb. immunization of rabbit with human Mb yielded anti-Mb antibody which was purified by affinity chromatography. Human hemoglobin, CK, and the component of serum per se did not appear to cross-react with the antibody. Mb was radiolabeled by the chloramine T method. The radioimmunoassay method could detect as little as 0.3 ng of Mb and was not affected by hemolysis. Information is also given on precision, recovery, and specimen preservation. Mb levels could be detected in all of 120 normal adults, and the values ranged between 1 and 28 ng/ml (mean, 13.1 +/- 6.1). No sex difference was observed. Levels were markedly elevated in all the patients with progressive muscular dystrophy, especially in the Duchenne type at the level of 40 to 1700 ng/ml. It was also noticed that about 70% of female gene carriers of Duchenne type had a slightly increased Mb level. An elevated serum Mb was also noted in polymyositis. In every case of acute myocardial infarction, serum Mb levels were increased, peak values ranging from 175 to 4400 ng/ml and averaging 1162 +/- 287.9. Mb levels were elevated faster and peaked earlier (within 6 to 12 hr after the attack) than serum CK activity and returned to nearly normal range within 3 to 4 days. The increase in serum Mb was also noticed in shock and surgery. These data indicate that radioimmunoassay of Mb is a useful test for judging the myolytic state of myogenic myopathies and for early detection of myocardial infarction.
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PMID:Radioimmunoassay for human myoglobin: methods and results in patients with skeletal muscle or myocardial disorders. 68 20

Creatine kinase isoenzymes in sera and muscle biopsies obtained from 50 controls, 72 patients with progressive muscular dystrophy (PMD), 68 patients with other neuromuscular disorders, 17 carriers of Duchenne-type PMD and 15 patients with myocardial infarction were studied. MB isoenzyme was detected in the sera of 58 patients with PMD and 56 out of 61 muscle biopsies. The MB activity varied between 4 and 400 IU/1 or 3.4--22% of total activity. The MB activity was demonstrated in a considerably smaller number of cases with polymyositis, dystrophic myotonia and Kugelberg-Welander disease. The MB isoenzyme in sera of PMD persisted for many years. It is admitted that the MB isoenzyme in the serum of patients with PMD originates chiefly from skeletal muscle.
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PMID:Serum creatine kinase isoenzymes in progressive muscular dystrophy. 69 95

The AA. have carried out in patients affected by proved myocardial infarct, by other cardiac diseases and by muscular dystrophy the following enzymes determinations: total CPK, total LDH, SGOT, SGPT, HBDH, CPK isoenzymes by column chromatography (Mercer's method) and LDH isoenzymes either by column chromatography (Mercer's method) and by electrophoretic separation. Some results concerning the appearance of the CK-MB isoenzymes during the acute period of the myocardial infarction are described.
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PMID:[Determination of CPK isoenzymes by column chromatography (author's transl)]. 102 94

(1) Narrowness of the early-diastolic and presystolic peaks on the echo curve of the anterior mitral leaflet and an abnormal step formation at the middle or higher level on the descending limb of the presystolic peak were observed in 7 cases with congestive cardiomyopathy or myocardial fibrosis, 1 case with myocardial infarction, and 1 case with cardiomyopathy due to progressive muscular dystrophy. (2) This abnormal pattern is considered to be closely related to the myocardial condition in the above-mentioned diseases. (3) Probable mechanisms for this pattern formation are considered as follows: (i) a sudden reduction of distensibility of the left ventricle after filling of the ventricle over a certain limit near full-filling, and impaired ventricular contractility, (ii) restriction in the mobility of the mitral valve and its chardae due to thier inability to adapt themselves to a developed dilatation of the left ventricle. (4) A similar presystolic step formation on the echo curve of the anterior mitral leaflet was observed in 3 of 25 cases of hypertrophic cardiomyopathy of Goodwin's sense. Differences between the myocardial state in congestive cardiomyopathy or in similar myocardial diseases and that in hypertrophic cardiomyopathy were also discussed.
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PMID:An unusual pattern of the mitral echocardiogram observed in cases of congestive cardiomyopathy and other myocardial diseases. 117 35

Myocardial infarction (MI), a common occurrence in adults, is generally considered to be rare in children. Electrocardiographic criteria for diagnosis of MI in adults are well known and accepted, but no general criteria exist for children. We report 37 autopsy-proved cases of transmural MI and electrocardiographic evidence of MI in 30 of these cases. A variety of conditions previously reported to produce "pseudo-infarction" are included in these cases of MI, including myocarditis, hypertrophic cardiomyopathy, and the cardiomyopathy of Duchenne's muscular dystrophy. Compilation of the electrocardiographic data in all patients allowed for the development of criteria for this diagnosis of MI in childhood, and include wide Q waves (greater than 35 ms) with or without Q-wave notching, ST-segment elevation (greater than 2 mm), and prolonged QT interval corrected for heart rate (QTc greater than 440 ms) with accompanying Q-wave abnormalities. With use of these electrocardiographic criteria, an additional 3 patients were subsequently diagnosed prospectively with MI and confirmed on autopsy. Pathologic evaluation confirmed the location of infarction predicted by the electrocardiograms in all 3 cases.
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PMID:Electrocardiographic criteria for diagnosis of acute myocardial infarction in childhood. 159 67

A sandwich enzyme immunoassay method for measurement of beta subunit of muscle enolase in human serum was developed by use of purified antibodies to enolase beta subunit and beta-D-galactosidase from Escherichia coli as label. The assay was specific to the beta subunit with no cross-reaction with the alpha and gamma subunits of human enolase. The measurable range was from 10 pg to 10 ng per assay tube or 1 to 1000 ng/ml serum. Coefficients of variation within-run and between-run for the assay of serum beta subunit were less than 14%. Normal adult sera contained about 6 ng/ml of the beta subunit, and the levels were significantly elevated in sera of patients with muscular dystrophy and those with myocardial infarction. Serum levels of the beta subunit correlated well with those of creatine phosphokinase, but poorly with those of myoglobin in the same samples. The specific distribution of beta subunit in skeletal muscle and heart was confirmed by measuring the levels in various tissue extracts.
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PMID:Immunoassay of human muscle enolase subunit in serum: a novel marker antigen for muscle diseases. 634 61

Electrocardiographic changes are well known in Duchenne's muscular dystrophy (DMD). Their cause is still controversial. The aim of this study was: to verify the genetic theory of these changes to improve our understanding of their pathogenesis, by studying the distribution and characteristics of the mother carriers; to determine whether electro-vectocardiography could be of value in detecting carriers of the disease. Fourteen patients aged from 7 to 17 years old with DMD underwent ECG and VCG. ECG changes were recorded in 13 of the 14 cases: increased amplitude of the R wave in the right precordial leads or deep Q waves (amplitude greater than or equal to 2 mm, duration less than 0,04 msec) in the peripheral or left precordial leads. The algebraic sum of R--S in V1 was greater than normal in 6 carriers. VCG criteria of posterior myocardial infarction were fulfilled in 11 patients. "Bites" were recorded in 4 patients and 8 carriers. Electrical changes were therefore found in both patients and carriers with equal significance: in the first group the main appearances were of pseudo-infarction, principally involving the posterior wall; in the second group, less specific changes, best recorded on VCG, suggesting foci of myocardial fibrosis were observed. We think that the "bites" recorded in 66 p. 100 of mothers, could be a useful parameter for detecting carrier subjects.
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PMID:[Electro-vectorcardiographic study in Duchenne de Boulogne progressive muscular dystrophy]. 681 21

Infrared photomicrography was used extensively from 1927 to the 1940's, but received little attention during the last decades. However, studies of infrared fluorescence of stained sections could not be found in the accessible literature. Ramsley (1968) published quantitative data on infrared fluorescence of approximately 250 dyes bound to textile fibers. The intensity of infrared fluorescence of many dyes varied widely with the substrate. It was therefore deemed of interest to determine whether or not similar differences in infrared fluorescence may occur when dyes are bound to histochemically distinct tissue structures. Myofibrils and collagens stained with triarylmethane dyes were chosen as test objects. Kodak infrared cut-off filter No. 301 and Wratten filter #16 were used as exciter filters to remove infrared and UV-blue and the light of a xenon lamp. Wratten filter #70 and #89B were employed as barrier filters. Infrared radiation was recorded with Kodak Ektachrome infrared film. To facilitate correlation of infrared fluorescence patterns with visible images, tissues were photographed also with conventional color film. Stained myofibrils, e.g. in myoepithelium, smooth and striated muscle emitted strong infrared fluorescence; collagen showed little or no fluorescence. Barrier filter Wratten #70 permitted simultaneous demonstration of infrared fluorescence and of non-fluorescent structures and thus facilitated histopathological studies. Preliminary findings indicate decrease or loss of infrared fluorescence of stained muscle fibers in various lesions, e.g. myocardial infarction, Duchenne-type muscular dystrophy.
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PMID:Infrared fluorescence microscopy of stained tissues: principles and technic. 746 2


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